Linked Data
ClinVar Variation Id:
1080743
ClinVar RCV Id:
RCV001396464
dbSNP Id:
rs2118980845
gnomAD v4:
9-32550783-T-C
MyVariant Identifiers:
chr9:g.32550781T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550783T>C , CM000671.2:g.32550783T>C | GRCh38 |
| NC_000009.11:g.32550781T>C , CM000671.1:g.32550781T>C | GRCh37 |
| NC_000009.10:g.32540781T>C | NCBI36 |
| NG_017050.1:g.6842A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.189A>G MANE Select | ENSP00000353735.2:p.Ala63= | |
| ENST00000680198.1:c.189A>G | ENSP00000505143.1:p.Ala63= | |
| ENST00000681750.1:c.-54A>G | ENSP00000506413.1:n.-54A>G | |
| ENST00000360538.6:c.189A>G | ENSP00000353735.2:p.Ala63= | |
| ENST00000379858.1:c.3+1651A>G | ENSP00000369187.1:n.3+1651A>G | |
| NM_001195622.1:c.3+1651A>G | NP_001182551.1:n.3+1651A>G | |
| NM_005802.4:c.189A>G | NP_005793.2:p.Ala63= | |
| NM_005802.5:c.189A>G MANE Select | NP_005793.2:p.Ala63= | |
| NM_001195622.2:c.3+1651A>G | NP_001182551.1:n.3+1651A>G |